Canonical Allele Identifier: CA2624007203

Gene: APEX1

Linked Data

• gnomAD v4: 14-20456995-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456999_20457001del , CM000676.2:g.20456999_20457001del	GRCh38
NC_000014.8:g.20925158_20925160del , CM000676.1:g.20925158_20925160del	GRCh37
NC_000014.7:g.19994998_19995000del	NCBI36
NG_008718.1:g.6869_6871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.448_450del MANE Select	ENSP00000216714.3:p.Glu150del
ENST00000216714.7:c.448_450del	ENSP00000216714.3:p.Glu150del
ENST00000398030.8:c.448_450del	ENSP00000381111.4:p.Glu150del
ENST00000438886.1:c.289-61_289-59del
ENST00000553555.5:n.868_870del
ENST00000553681.5:c.448_450del	ENSP00000451327.1:p.Glu150del
ENST00000554813.5:n.514_516del
ENST00000555306.5:n.895_897del
ENST00000555414.5:c.448_450del	ENSP00000451979.1:p.Glu150del
ENST00000555839.5:c.440-79_440-77del	ENSP00000452460.1:n.440-79_440-77del
ENST00000556054.5:c.448_450del	ENSP00000451170.1:p.Glu150del
ENST00000557054.1:c.28-124_28-122del	ENSP00000452212.2:n.28-124_28-122del
ENST00000557150.5:c.397_399del	ENSP00000452418.1:p.Glu133del
ENST00000557159.5:n.1064_1066del
ENST00000557365.1:n.528_530del
ENST00000557592.5:c.397_399del	ENSP00000451060.1:p.Glu133del
NM_001244249.1:c.448_450del	NP_001231178.1:p.Glu150del
NM_001641.3:c.448_450del	NP_001632.2:p.Glu150del
NM_080648.2:c.448_450del	NP_542379.1:p.Glu150del
NM_080649.2:c.448_450del	NP_542380.1:p.Glu150del
XM_005267581.3:c.448_450del	XP_005267638.1:p.Glu150del
XM_005267582.3:c.397_399del	XP_005267639.1:p.Glu133del
NM_001641.4:c.448_450del MANE Select	NP_001632.2:p.Glu150del
NM_001244249.2:c.448_450del	NP_001231178.1:p.Glu150del
NM_080648.3:c.448_450del	NP_542379.1:p.Glu150del
NM_080649.3:c.448_450del	NP_542380.1:p.Glu150del